Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values AGRN 375790 broad.mit.edu 37 1 981607 981607 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr1:981607G>A uc001ack.2 + 16 2923 c.2873G>A c.(2872-2874)gGc>gAc p.G958D NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 958 Kazal-like 9. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) TGCCGCCAGGGCCTGCAAATC 0.612 ZNF362 149076 broad.mit.edu 37 1 33745881 33745881 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr1:33745881G>A uc001bxc.1 + 4 676 c.506G>A c.(505-507)aGc>aAc p.S169N NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN Homo sapiens zinc finger protein 362 (ZNF362), mRNA. 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGGATCACCAGCCCCCCTCTC 0.677 MAP7D1 55700 broad.mit.edu 37 1 36636835 36636835 + Missense_Mutation SNP C C T rs2296266 byFrequency TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr1:36636835C>T uc001bzz.3 + 1 526 c.310C>T c.(310-312)Cgg>Tgg p.R104W MAP7D1_uc001caa.3_Missense_Mutation_p.R104W|MAP7D1_uc001cab.3_Missense_Mutation_p.R104W|MAP7D1_uc001cac.3_5'Flank NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA. 104 Pro-rich. R -> W (in dbSNP:rs2296266). cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CATGGGCCCACGGGATGCCAG 0.662 TM2D1 83941 broad.mit.edu 37 1 62190731 62190731 + Missense_Mutation SNP C C A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr1:62190731C>A uc001czz.1 - 0 365 c.62G>T c.(61-63)gGt>gTt p.G21V NM_032027 NP_114416 Q9BX74 TM2D1_HUMAN Homo sapiens TM2 domain containing 1 (TM2D1), mRNA. 21 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 CCACAGGACACCAACGAGTCT 0.657 FLG 2312 broad.mit.edu 37 1 152282713 152282713 + Nonsense_Mutation SNP G G C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr1:152282713G>C uc001ezu.1 - 2 4685 c.4649C>G c.(4648-4650)tCa>tGa p.S1550* NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1550 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGTCTCCTGATTGTTCCTC 0.592 Ichthyosis PTEN 5728 broad.mit.edu 37 10 89717712 89717712 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr10:89717712C>T uc001kfb.3 + 6 1769 c.737C>T c.(736-738)cCg>cTg p.P246L PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 246 C2 tensin-type. P -> L (in CD and BZS). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.P246L(15)|p.Q245*(8)|p.R55fs*1(5)|p.P246fs*11(3)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.G165_*404del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTCCCTCAGCCGTTACCTGTG 0.418 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PTEN 5728 broad.mit.edu 37 10 89720659 89720659 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr10:89720659G>A uc001kfb.3 + 7 1842 c.810G>A c.(808-810)atG>atA p.M270I PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 270 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M270I(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) AGGACAAAATGTTTCACTTTT 0.264 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) MRGPRE 116534 broad.mit.edu 37 11 3249621 3249621 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr11:3249621G>A uc021qcj.1 - 0 406 c.406C>T c.(406-408)Cgc>Tgc p.R136C MRGPRE_uc001lxq.4_Missense_Mutation_p.R136C NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA. 136 integral to membrane|plasma membrane G-protein coupled receptor activity p.R136C(2) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) GTCAGGTGGCGTGGGCGGCGG 0.692 MRGPRX2 117194 broad.mit.edu 37 11 19077538 19077538 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr11:19077538G>A uc001mph.3 - 1 500 c.412C>T c.(412-414)Cgc>Tgc p.R138C MRGPRX2_uc021qer.1_Missense_Mutation_p.R138C NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA. 138 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 CGGCGGCAGCGATACCAGATG 0.617 MAPK8IP1 9479 broad.mit.edu 37 11 45925671 45925671 + Missense_Mutation SNP A A G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr11:45925671A>G uc001nbr.3 + 6 1950 c.1625A>G c.(1624-1626)tAt>tGt p.Y542C NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA. 542 SH3. vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity p.Y542C(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2) 24 GBM - Glioblastoma multiforme(35;0.231) TTTCCTGCCTATTACGCCATC 0.602 OR5R1 219479 broad.mit.edu 37 11 56185215 56185215 + Missense_Mutation SNP C C T rs138983419 byFrequency TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr11:56185215C>T uc010rji.2 - 0 494 c.494G>A c.(493-495)cGt>cAt p.R165H OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) GTAAGTCAGACGGAAAGTGAT 0.438 LRRC55 219527 broad.mit.edu 37 11 56950146 56950146 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr11:56950146G>A uc001njl.2 + 0 926 c.779G>A c.(778-780)cGc>cAc p.R260H NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 230 LRRCT. integral to membrane p.R260H(2)|p.R260C(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 CGGATCCAGCGCTGTACAGCA 0.607 RNF169 254225 broad.mit.edu 37 11 74546969 74546969 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr11:74546969C>T uc001ovl.4 + 5 1334 c.1321C>T c.(1321-1323)Cgg>Tgg p.R441W XRRA1_uc001ovm.2_Intron NM_001098638 NP_001092108 Q8NCN4 RN169_HUMAN Homo sapiens ring finger protein 169 (RNF169), mRNA. 441 zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1) 15 CTTTCAGGAGCGGCAGATCAA 0.478 C12orf4 57102 broad.mit.edu 37 12 4643363 4643363 + Nonsense_Mutation SNP A A C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr12:4643363A>C uc001qms.3 - 2 372 c.284T>G c.(283-285)tTa>tGa p.L95* C12orf4_uc001qmt.3_Nonsense_Mutation_p.L95* NM_020374 NP_065107 Q9NQ89 CL004_HUMAN Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA. 95 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) CAGCTGATGTAAATCTACTTC 0.393 CLSTN3 9746 broad.mit.edu 37 12 7295764 7295764 + Silent SNP C C T rs143198009 byFrequency TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr12:7295764C>T uc001qss.3 + 10 2278 c.1740C>T c.(1738-1740)caC>caT p.H580H CLSTN3_uc001qsr.3_Silent_p.H568H NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 568 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CCCAGGTCCACGTGAACCCCT 0.612 PPP1CC 5501 broad.mit.edu 37 12 111168342 111168342 + Missense_Mutation SNP T T A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr12:111168342T>A uc001tru.3 - 2 681 c.410A>T c.(409-411)tAt>tTt p.Y137F PPP1CC_uc021rdx.1_Missense_Mutation_p.Y137F NM_002710 NP_002701 P36873 PP1G_HUMAN Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA. 137 cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity central_nervous_system(1)|large_intestine(2)|lung(3) 6 ACATTCATCATAAAATCCATA 0.308 DNAH10 196385 broad.mit.edu 37 12 124416577 124416577 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr12:124416577G>A uc001uft.4 + 74 12889 c.12864G>A c.(12862-12864)agG>agA p.R4288R DNAH10_uc001ufu.4_Silent_p.R201R NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 4288 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCTGGAGAAGGCTTGCTCCTG 0.493 MDGA2 161357 broad.mit.edu 37 14 47351248 47351248 + Silent SNP A A G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr14:47351248A>G uc001wwj.4 - 11 2574 c.2416_splice c.e11+1 p.A806_splice MDGA2_uc001wwh.4_Splice_Site|MDGA2_uc001wwi.4_Splice_Site_p.A508_splice|MDGA2_uc010ani.3_Splice_Site_p.A297_splice NM_001113498 NP_878250 Q7Z553 MDGA2_HUMAN Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA. 737 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GCTACTTACCACTATATTTGA 0.313 CDKL1 8814 broad.mit.edu 37 14 50808934 50808934 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr14:50808934G>A uc010anu.2 - 16 2386 c.2386C>T c.(2386-2388)Cat>Tat p.H796Y CDKL1_uc001wxz.3_Missense_Mutation_p.H125Y NM_004196 NP_004187 Q00532 CDKL1_HUMAN Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA. 124 cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1) 12 all_epithelial(31;0.000746)|Breast(41;0.0102) ACGTCTCTATGTATGCACTAG 0.333 NIN 51199 broad.mit.edu 37 14 51196324 51196324 + Missense_Mutation SNP G G A rs144624455 by1000genomes TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr14:51196324G>A uc001wyi.3 - 28 6186 c.5995C>T c.(5995-5997)Cgc>Tgc p.R1999C NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R1999C|NIN_uc001wyk.3_Missense_Mutation_p.R1286C|NIN_uc001wyo.3_Missense_Mutation_p.R1999C|NIN_uc001wyn.3_Non-coding_Transcript NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 1999 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AGCAGCTGGCGTTGAAGCTGC 0.567 T PDGFRB MPD AK7 122481 broad.mit.edu 37 14 96949427 96949427 + Silent SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr14:96949427C>T uc001yfn.2 + 15 1889 c.1845C>T c.(1843-1845)gaC>gaT p.D615D NM_152327 NP_689540 Q96M32 KAD7_HUMAN Homo sapiens adenylate kinase 7 (AK7), mRNA. 615 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) GTTTAACAGACGAAGAAAAGG 0.507 NIPA1 123606 broad.mit.edu 37 15 23048832 23048832 + Missense_Mutation SNP G G T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr15:23048832G>T uc001yvc.3 - 4 1012 c.987C>A c.(985-987)gaC>gaA p.D329E NIPA1_uc001yvd.3_Missense_Mutation_p.D159E|NIPA1_uc001yve.3_Missense_Mutation_p.D254E NM_144599 NP_001135747 Q7RTP0 NIPA1_HUMAN Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA. 329 cell death early endosome|integral to membrane|plasma membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1) 15 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165) TTGCAATCTAGTCTGTTTTCA 0.453 AKAP13 11214 broad.mit.edu 37 15 86270682 86270682 + Missense_Mutation SNP C C G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr15:86270682C>G uc002blv.1 + 28 7245 c.7075C>G c.(7075-7077)Cga>Gga p.R2359G AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G NM_007200 NP_009131 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA. 2359 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CACCAGAGCCCGAGAATTAAA 0.448 ACAN 176 broad.mit.edu 37 15 89417650 89417650 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr15:89417650C>T uc010upo.1 + 17 7905 c.7531C>T c.(7531-7533)Cgc>Tgc p.R2511C ACAN_uc010upp.1_Missense_Mutation_p.R2412C|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 2511 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CACCTACAAACGCAGACTACA 0.612 CLCN7 1186 broad.mit.edu 37 16 1507256 1507256 + Missense_Mutation SNP T T C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr16:1507256T>C uc002clv.2 - 9 932 c.822_splice c.e9+1 p.K274_splice CLCN7_uc002clw.2_Splice_Site_p.K250_splice NM_001287 NP_001278 P51798 CLCN7_HUMAN Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA. 274 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) TCAACTCACCTTGAAATCTCG 0.592 COG4 25839 broad.mit.edu 37 16 70551628 70551628 + Silent SNP C C G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr16:70551628C>G uc002ezc.3 - 2 281 c.270G>C c.(268-270)ctG>ctC p.L90L COG4_uc002ezd.3_Silent_p.L90L|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR NM_015386 NP_056201 Q9H9E3 COG4_HUMAN Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA. 86 Interacts with STX5. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) CTCCCTCAATCAGCTGCAGAT 0.453 TAT 6898 broad.mit.edu 37 16 71603782 71603782 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr16:71603782C>T uc002fap.2 - 9 1199 c.1100G>A c.(1099-1101)cGc>cAc p.R367H NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 367 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) CCCAGAAGGGCGGACTGGCCG 0.512 KARS 3735 broad.mit.edu 37 16 75665416 75665416 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr16:75665416C>T uc002feq.3 - 8 1198 c.1150G>A c.(1150-1152)Gat>Aat p.D384N KARS_uc002fer.3_Missense_Mutation_p.D412N NM_005548 NP_005539 Q15046 SYK_HUMAN Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA. 384 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) AAGTCAACATCGTAGGCTTGG 0.517 USP10 9100 broad.mit.edu 37 16 84812553 84812553 + Silent SNP C C A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr16:84812553C>A uc010voe.2 + 14 2525 c.2274C>A c.(2272-2274)gtC>gtA p.V758V USP10_uc002fii.3_Silent_p.V754V|USP10_uc010vof.2_Silent_p.V316V|USP10_uc002fij.3_Silent_p.V280V NM_005153 NP_005144 Q14694 UBP10_HUMAN Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA. 754 DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process early endosome|intermediate filament cytoskeleton|nucleus cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.I757N(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1) 17 CTACAGACGTCTTCCAGATCG 0.567 WSCD1 23302 broad.mit.edu 37 17 5991317 5991317 + Silent SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr17:5991317C>T uc010cli.3 + 2 814 c.435C>T c.(433-435)taC>taT p.Y145Y WSCD1_uc002gcn.3_Silent_p.Y145Y|WSCD1_uc002gco.3_Silent_p.Y145Y|WSCD1_uc010clj.3_Intron NM_015253 NP_056068 Q658N2 WSCD1_HUMAN Homo sapiens WSC domain containing 1 (WSCD1), mRNA. 145 WSC 1. integral to membrane sulfotransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1) 35 CAGGCACCTACATTGGATGCT 0.537 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G G A rs28934574 TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr17:7577094G>A uc002gim.2 - 7 1038 c.844C>T c.(844-846)Cgg>Tgg p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 282 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TCTGTGCGCCGGTCTCTCCCA 0.557 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) SLC13A2 9058 broad.mit.edu 37 17 26816246 26816246 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr17:26816246G>A uc010wan.2 + 1 184 c.117G>A c.(115-117)gcG>gcA p.A39A SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.A39A|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR NM_001145975 NP_001139447 Q13183 S13A2_HUMAN Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA. 39 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity p.A39V(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) CCTACTGCGCGTATGCCATCA 0.612 SLC16A6 9120 broad.mit.edu 37 17 66267054 66267054 + Missense_Mutation SNP T T G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr17:66267054T>G uc002jha.2 - 5 1560 c.1247A>C c.(1246-1248)gAg>gCg p.E416A ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.E416A NM_001174166 NP_004685 O15403 MOT7_HUMAN Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA. 416 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) AGACATCTTCTCAATGCCCAC 0.458 GPS1 2873 broad.mit.edu 37 17 80014960 80014960 + Missense_Mutation SNP T T C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr17:80014960T>C uc002kdk.1 + 12 1961 c.1541T>C c.(1540-1542)cTg>cCg p.L514P GPS1_uc002kdl.1_Missense_Mutation_p.L478P|GPS1_uc010dij.1_Missense_Mutation_p.L513P|GPS1_uc002kdm.1_Missense_Mutation_p.L458P|GPS1_uc002kdn.1_Missense_Mutation_p.L474P|GPS1_uc010wvh.1_Missense_Mutation_p.L470P NM_212492 NP_997657 Q13098 CSN1_HUMAN Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA. 478 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2) 13 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) CAGGGGGAGCTGACTCCAGCC 0.677 CIDEA 1149 broad.mit.edu 37 18 12262928 12262928 + Missense_Mutation SNP G G A rs149949331 byFrequency TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr18:12262928G>A uc002kqt.4 + 1 208 c.143G>A c.(142-144)cGt>cAt p.R48H CIDEA_uc002kqu.4_Missense_Mutation_p.R82H|CIDEA_uc010dlc.3_Non-coding_Transcript NM_001279 NP_001270 O60543 CIDEA_HUMAN Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA. 48 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 AGCAGCCGGCGTGGGGTGATG 0.622 MUC16 94025 broad.mit.edu 37 19 9046404 9046404 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr19:9046404C>T uc002mkp.3 - 4 35431 c.35227G>A c.(35227-35229)Gtg>Atg p.V11743M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11745 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V7376M(1)|p.V11743M(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGAAGTCACCATCTCTGGT 0.502 HPN 3249 broad.mit.edu 37 19 35556818 35556818 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr19:35556818C>T uc002nxq.2 + 12 1342 c.1097C>T c.(1096-1098)aCg>aTg p.T366M HPN_uc002nxr.2_Missense_Mutation_p.T366M|HPN_uc010xsh.1_Missense_Mutation_p.T335M|HPN_uc002nxt.1_Missense_Mutation_p.T250M|LOC100128675_uc010xsi.2_Intron NM_002151 NP_892028 P05981 HEPS_HUMAN Homo sapiens hepsin (HPN), transcript variant 2, mRNA. 366 Peptidase S1. cell growth|proteolysis cytoplasm|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 19 all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) Coagulation factor VIIa(DB00036) ATCTCTCGGACGCCACGTTGG 0.632 NUCB1 4924 broad.mit.edu 37 19 49414468 49414468 + Missense_Mutation SNP C C G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr19:49414468C>G uc002plb.4 + 4 773 c.439C>G c.(439-441)Cat>Gat p.H147D NUCB1_uc002pla.3_Missense_Mutation_p.H147D|Mir_324_uc021uxb.1_5'Flank NM_006184 NP_006175 Q02818 NUCB1_HUMAN Homo sapiens nucleobindin 1 (NUCB1), mRNA. 147 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) TCAGAACCAGCATACATTCGA 0.552 ZNF264 9422 broad.mit.edu 37 19 57722987 57722987 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr19:57722987G>A uc002qob.3 + 3 936 c.522G>A c.(520-522)gaG>gaA p.E174E NM_003417 NP_003408 O43296 ZN264_HUMAN Homo sapiens zinc finger protein 264 (ZNF264), mRNA. 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TTGGACAGGAGCAAGTCTCTC 0.463 TMEM198 130612 broad.mit.edu 37 2 220414057 220414057 + Missense_Mutation SNP A A G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr2:220414057A>G uc002vme.3 + 4 1511 c.926A>G c.(925-927)aAt>aGt p.N309S TMEM198_uc002vmf.3_Missense_Mutation_p.N309S|MIR3132_uc021vxc.1_5'Flank NM_001005209 NP_001005209 Q66K66 TM198_HUMAN Homo sapiens transmembrane protein 198 (TMEM198), mRNA. 309 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 16 Renal(207;0.0376) Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AAACGCTTCAATGGAGACGTC 0.627 CHGB 1114 broad.mit.edu 37 20 5904212 5904212 + Silent SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr20:5904212C>T uc002wmg.3 + 3 1728 c.1422C>T c.(1420-1422)taC>taT p.Y474Y CHGB_uc010zqz.2_Silent_p.Y157Y NM_001819 NP_001810 P05060 SCG1_HUMAN Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA. 474 extracellular region hormone activity p.N473Y(1)|p.N473S(1) breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 ATCTCAACTACGGTGAGGAAG 0.507 TRPM2 7226 broad.mit.edu 37 21 45825917 45825917 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr21:45825917G>A uc010gpt.1 + 17 2887 c.2787G>A c.(2785-2787)cgG>cgA p.R929R TRPM2_uc002zet.1_Silent_p.R929R|TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 929 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity p.R929W(1) breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TTGTGAAGCGGATGGTAAGGG 0.627 TGFBR2 7048 broad.mit.edu 37 3 30732972 30732972 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr3:30732972C>T uc003ceo.3 + 6 1967 c.1585C>T c.(1585-1587)Ctc>Ttc p.L529F TGFBR2_uc003cen.3_Missense_Mutation_p.L554F NM_003242 NP_003233 P37173 TGFR2_HUMAN Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA. 529 Protein kinase. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.R528C(2)|p.R528H(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 AGAGGCCCGTCTCACAGCCCA 0.592 CELSR3 1951 broad.mit.edu 37 3 48696782 48696782 + Missense_Mutation SNP C C T rs144228630 TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr3:48696782C>T uc003cuf.1 - 2 3496 c.3496G>A c.(3496-3498)Gaa>Aaa p.E1166K CELSR3_uc003cul.3_Missense_Mutation_p.E1096K NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA. 1096 Cadherin 8. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TTGGGGCCTTCGTCAGGGTCC 0.532 BSN 8927 broad.mit.edu 37 3 49699300 49699300 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr3:49699300C>T uc003cxe.4 + 5 10136 c.10022C>T c.(10021-10023)cCc>cTc p.P3341L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3341 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCATGGGGCCCAAGCATCCC 0.572 CLDN18 51208 broad.mit.edu 37 3 137717874 137717874 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr3:137717874G>A uc003ero.1 + 0 217 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_001002026 NP_001002026 P56856 CLD18_HUMAN Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA. 55 calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.V54M(1) endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 6 TCCTGTGTCCGAGAGAGCTCT 0.602 ATP10D 57205 broad.mit.edu 37 4 47575010 47575010 + Missense_Mutation SNP A A T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr4:47575010A>T uc003gxk.1 + 17 3526 c.3362A>T c.(3361-3363)aAt>aTt p.N1121I ATP10D_uc003gxl.1_Missense_Mutation_p.N369I NM_020453 NP_065186 Q9P241 AT10D_HUMAN Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA. 1121 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TTCTATAAGAATGTGGTATGT 0.433 KIAA1211 57482 broad.mit.edu 37 4 57189704 57189704 + Frame_Shift_Del DEL A A - TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr4:57189704delA uc003hbk.2 + 8 3740 c.3349delA c.(3349-3351)aaafs p.K1117fs KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 1117 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CAGAGAGGCCAAACAGGCAGA 0.507 TLR2 7097 broad.mit.edu 37 4 154626088 154626088 + Missense_Mutation SNP C C T rs121917864 TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr4:154626088C>T uc003inq.3 + 2 2248 c.2029C>T c.(2029-2031)Cgg>Tgg p.R677W TLR2_uc003inr.3_Missense_Mutation_p.R677W|TLR2_uc003ins.3_Missense_Mutation_p.R677W|TLR2_uc021xtl.1_Missense_Mutation_p.R677W NM_003264 NP_003255 O60603 TLR2_HUMAN Homo sapiens toll-like receptor 2 (TLR2), mRNA. 677 TIR. R -> W. cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) TCTTCATAAGCGGGACTTCAT 0.443 DNAH5 1767 broad.mit.edu 37 5 13735337 13735337 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr5:13735337G>A uc003jfd.2 - 67 11706 c.11664C>T c.(11662-11664)taC>taT p.Y3888Y DNAH5_uc003jfc.2_Silent_p.Y56Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3888 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.Y3888*(2) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGTGCTCCTCGTACAGCCCTC 0.458 Kartagener syndrome PCDHAC2 56137 broad.mit.edu 37 5 140256980 140256980 + Silent SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr5:140256980C>T uc003lic.2 + 0 2050 c.1923C>T c.(1921-1923)gaC>gaT p.D641D PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.D641D NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 652 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAGGCGGACGCTCCGCGCC 0.692 IL12B 3593 broad.mit.edu 37 5 158743755 158743755 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr5:158743755G>A uc003lxr.1 - 6 967 c.925C>T c.(925-927)Cgg>Tgg p.R309W RNU4ATAC_uc021ygw.1_5'Flank NM_002187 NP_002178 P29460 IL12B_HUMAN Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA. 309 Fibronectin type-III. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTGGGCCCGCACGCTAATG 0.562 OREG0016989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KDM1B 221656 broad.mit.edu 37 6 18207666 18207666 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr6:18207666C>T uc003nco.1 + 8 1163 c.1088C>T c.(1087-1089)gCc>gTc p.A363V KDM1B_uc003ncn.1_Missense_Mutation_p.A334V NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA. 566 SWIRM. multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1) 25 GAATTCTTTGCCCAGTTTGCT 0.502 HIST1H3J 8356 broad.mit.edu 37 6 27858448 27858451 + Frame_Shift_Del DEL GCGG GCGG - TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr6:27858448_27858451delGCGG uc003nka.3 - 0 120_123 c.120_123delCCGC c.(118-123)caccgcfs p.H40fs HIST1H2BO_uc003nkc.1_5'Flank NM_003535 NP_066298 P68431 H31_HUMAN Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA. 40 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1) 8 CTGGCCTGTAGCGGTGGGGCTTCT 0.632 PRSS35 167681 broad.mit.edu 37 6 84233953 84233953 + Nonsense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr6:84233953C>T uc003pjz.3 + 1 1033 c.793C>T c.(793-795)Cga>Tga p.R265* PRSS35_uc010kbm.3_Nonsense_Mutation_p.R265*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R265* NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA. 265 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity p.A264T(1) breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGGCTGGGCACGAGGAGGCAT 0.527 WISP3 8838 broad.mit.edu 37 6 112385979 112385979 + Missense_Mutation SNP A A G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr6:112385979A>G uc003pvo.3 + 2 558 c.422A>G c.(421-423)gAg>gGg p.E141G WISP3_uc003pvm.3_Missense_Mutation_p.E123G|WISP3_uc003pvn.3_Non-coding_Transcript NM_198239 NP_003871 O95389 WISP3_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA. 123 cell-cell signaling|regulation of cell growth|signal transduction extracellular region|soluble fraction growth factor activity|insulin-like growth factor binding breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 13 all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) GTTGGGTGCGAGTTCAACCAG 0.458 GPR141 353345 broad.mit.edu 37 7 37780069 37780069 + Missense_Mutation SNP T T A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:37780069T>A uc003tfm.1 + 0 74 c.74T>A c.(73-75)tTc>tAc p.F25Y BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 25 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGCCTCTACTTCATAGTGCTT 0.493 NME8 51314 broad.mit.edu 37 7 37923971 37923971 + Missense_Mutation SNP C C T rs144650767 TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:37923971C>T uc003tfn.3 + 12 1433 c.1061C>T c.(1060-1062)tCg>tTg p.S354L NM_016616 NP_057700 Q8N427 TXND3_HUMAN Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA. 354 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity GTAGTATTATCGGAAAAAGAA 0.294 AMPH 273 broad.mit.edu 37 7 38530706 38530706 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:38530706C>T uc003tgu.3 - 4 556 c.340G>A c.(340-342)Gtg>Atg p.V114M AMPH_uc003tgv.3_Missense_Mutation_p.V114M NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 114 BAR. endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.V114M(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GACCCATCCACGAGTTTTTGA 0.403 ABCB4 5244 broad.mit.edu 37 7 87035603 87035603 + Splice_Site SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:87035603C>T uc003uiv.1 - 26 3583 c.3507_splice c.e26+1 p.H1169_splice ABCB4_uc003uiw.1_Splice_Site_p.H1162_splice|ABCB4_uc003uix.1_Splice_Site_p.H1115_splice NM_018849 NP_061337 P21439 MDR3_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA. 1169 ABC transporter 2. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTTTAACTTACGTGGGGTAAC 0.393 SAMD9L 219285 broad.mit.edu 37 7 92763951 92763951 + Missense_Mutation SNP T T C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:92763951T>C uc003umh.1 - 4 2550 c.1334A>G c.(1333-1335)gAg>gGg p.E445G SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc022ahh.1_Missense_Mutation_p.E445G NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA. 445 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGGATCAAACTCCAACACAGC 0.343 TFPI2 7980 broad.mit.edu 37 7 93518519 93518519 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:93518519G>A uc003umy.1 - 2 363 c.288C>T c.(286-288)tgC>tgT p.C96C GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C NM_006528 NP_006519 P48307 TFPI2_HUMAN Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA. 96 BPTI/Kunitz inhibitor 2. blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTTGCAGCCGGCAAACTTTGG 0.398 CYP3A43 64816 broad.mit.edu 37 7 99447306 99447306 + Missense_Mutation SNP T T C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:99447306T>C uc003ury.1 + 6 762 c.659T>C c.(658-660)tTa>tCa p.L220S CYP3A43_uc003urx.1_Missense_Mutation_p.L220S|CYP3A43_uc003urz.1_Missense_Mutation_p.L220S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.F82F NM_022820 NP_073731 Q9HB55 CP343_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA. 220 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) GATCCCTTTTTACTCTTAATA 0.294 NAT16 375607 broad.mit.edu 37 7 100816793 100816793 + Silent SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:100816793C>T uc003uxy.2 - 2 560 c.321G>A c.(319-321)ctG>ctA p.L107L NAT16_uc003uxz.2_Silent_p.L107L NM_198571 NP_940973 Q8N8M0 CG052_HUMAN Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA. 107 N-acetyltransferase. N-acetyltransferase activity TCACCGACTCCAGCGCGATCT 0.736 TCRBV2S1 154754 broad.mit.edu 37 7 142468304 142468305 + Splice_Site INS - - TA TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:142468304_142468305insTA uc003vzp.2 + TRBV5-1_uc011krr.1_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|TCRB_uc011ksp.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; GGAGCTGCTGGCGAGTTTCATG 0.540 CTAGE4 100128553 broad.mit.edu 37 7 143882703 143882703 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr7:143882703G>A uc010lpc.3 + 0 2156 c.2107G>A c.(2107-2109)Ggt>Agt p.G703S NM_198495 NP_940897 Q8IX94 CTGE4_HUMAN Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA. 703 Pro-rich. integral to membrane endometrium(1)|ovary(2) 3 TCCAATCAGCGGTCCATTGTT 0.502 ADAM32 203102 broad.mit.edu 37 8 39080734 39080734 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr8:39080734G>A uc003xmt.4 + 13 1747 c.1502G>A c.(1501-1503)cGt>cAt p.R501H ADAM32_uc011lch.2_Missense_Mutation_p.R402H|ADAM32_uc003xmu.4_Missense_Mutation_p.R395H|ADAM32_uc003xmv.3_Missense_Mutation_p.V23I NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 501 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) CTCGATGCACGTTGTGAGAGT 0.338 IDO1 3620 broad.mit.edu 37 8 39785510 39785510 + Missense_Mutation SNP G G C TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr8:39785510G>C uc003xnm.3 + 9 1132 c.1018G>C c.(1018-1020)Gtc>Ctc p.V340L NM_002164 NP_002155 P14902 I23O1_HUMAN Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA. 340 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) GAAAGCTCTGGTCTCCCTGAG 0.498 NIPAL2 79815 broad.mit.edu 37 8 99215392 99215392 + Missense_Mutation SNP G G A rs145862248 byFrequency TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr8:99215392G>A uc003yim.1 - 7 1080 c.824C>T c.(823-825)aCg>aTg p.T275M NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yil.1_Missense_Mutation_p.T275M Q9H841 NPAL2_HUMAN Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA. 275 integral to membrane cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1) 12 CACTGTTGTCGTATTGTAGAG 0.393 KANK1 23189 broad.mit.edu 37 9 730069 730069 + Missense_Mutation SNP C C G TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr9:730069C>G uc003zgl.1 + 7 3366 c.2717C>G c.(2716-2718)aCc>aGc p.T906S KANK1_uc003zgm.3_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank NM_015158 NP_055973 Q14678 KANK1_HUMAN Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA. 906 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TTGGGATATACCTGTAAGTGT 0.473 RUSC2 9853 broad.mit.edu 37 9 35560384 35560384 + Missense_Mutation SNP G G T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr9:35560384G>T uc003zww.3 + 9 4002 c.3747G>T c.(3745-3747)gaG>gaT p.E1249D RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1249D NM_014806 NP_055621 Q8N2Y8 RUSC2_HUMAN Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA. 1249 Poly-Glu. cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) agacagaagaggtggcagagg 0.662 TMEM2 23670 broad.mit.edu 37 9 74305126 74305126 + Missense_Mutation SNP C C T TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr9:74305126C>T uc011lsa.1 - 21 4273 c.3733G>A c.(3733-3735)Gtc>Atc p.V1245I TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.V79I NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA. 1245 integral to membrane p.G1244G(1) central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) AGGAGGAGGACGCCTGCACTT 0.453 TMC1 117531 broad.mit.edu 37 9 75387401 75387401 + Missense_Mutation SNP A A T rs111839361 TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr9:75387401A>T uc004aiz.1 + 12 1354 c.814A>T c.(814-816)Agg>Tgg p.R272W TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN Homo sapiens transmembrane channel-like 1 (TMC1), mRNA. 272 sensory perception of sound integral to membrane p.R272K(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 GATGAATTTCAGGTTGCCGCT 0.398 AGPAT2 10555 broad.mit.edu 37 9 139568283 139568283 + Missense_Mutation SNP C C A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chr9:139568283C>A uc004cii.1 - 5 860 c.758G>T c.(757-759)aGg>aTg p.R253M AGPAT2_uc004cij.1_Missense_Mutation_p.R221M NM_006412 NP_006403 O15120 PLCB_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA. 253 phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|prostate(2) 6 all_cancers(76;0.0893)|all_epithelial(76;0.231) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GAAGGTGGTCCTCATGGCCCG 0.682 ASB11 140456 broad.mit.edu 37 X 15307657 15307657 + Missense_Mutation SNP C C A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chrX:15307657C>A uc004cwp.2 - 4 643 c.624G>T c.(622-624)agG>agT p.R208S ASB11_uc004cwo.2_Missense_Mutation_p.R187S|ASB11_uc010net.2_Missense_Mutation_p.R191S|ASB11_uc010nes.2_Non-coding_Transcript NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA. 208 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) CACAGTCTACCCTCTGGTAGG 0.408 GRPR 2925 broad.mit.edu 37 X 16170433 16170433 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chrX:16170433G>A uc004cxj.3 + 2 1473 c.820G>A c.(820-822)Gcc>Acc p.A274T NM_005314 NP_005305 P30550 GRPR_HUMAN Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA. 274 cell proliferation integral to plasma membrane bombesin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3) 25 Hepatocellular(33;0.183) GGGCCTGTTCGCCTTCTGCTG 0.537 FTHL17 53940 broad.mit.edu 37 X 31089888 31089888 + Silent SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chrX:31089888G>A uc004dcl.1 - 0 283 c.183C>T c.(181-183)gaC>gaT p.D61D NM_031894 NP_114100 Q9BXU8 FHL17_HUMAN Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA. 61 Ferritin-like diiron. cellular iron ion homeostasis|iron ion transport ferric iron binding|oxidoreductase activity p.D61E(3)|p.S60S(1)|p.S60L(1) endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 23 CCATTTTGTCGTCCGACAGGC 0.577 PAGE2B 389860 broad.mit.edu 37 X 55103027 55103027 + Missense_Mutation SNP G G A TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chrX:55103027G>A uc004due.3 + 2 162 c.110G>A c.(109-111)cGt>cAt p.R37H PAGE2B_uc022bxk.1_Missense_Mutation_p.R37H NM_001015038 NP_001015038 Q5JRK9 GGEE3_HUMAN Homo sapiens P antigen family, member 2B (PAGE2B), mRNA. 37 lung(3) 3 GAGGAAAAACGTCAAGAAGAG 0.443 RPS6KA6 27330 broad.mit.edu 37 X 83320106 83320106 + Missense_Mutation SNP T T C rs149201069 byFrequency TCGA-06-0875-01A-01W-0424-08 TCGA-06-0875-10A-01W-0424-08 Untested Somatic Phase_I WXS none Illumina GAIIx 862cc896-a0dc-4f02-9940-8c9a5016027b bfdef984-b955-4781-a600-ccefd97274ce g.chrX:83320106T>C uc004eej.2 - 20 2021 c.1985A>G c.(1984-1986)cAt>cGt p.H662R RPS6KA6_uc011mqt.2_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.2_Missense_Mutation_p.H559R NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA. 662 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATGAAGCATATGGGAAAGCAA 0.338